ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.-37G>A

dbSNP: rs543890002
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418144 SCV000513848 benign not specified 2015-07-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV005235278 SCV005880898 benign Microcephaly, normal intelligence and immunodeficiency 2025-02-01 criteria provided, single submitter clinical testing

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